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Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings.
- Source :
-
Pediatric neurology [Pediatr Neurol] 2004 Sep; Vol. 31 (3), pp. 228-31. - Publication Year :
- 2004
-
Abstract
- Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with an encephalopathic episode that results in acute basal ganglia and white matter degeneration. The neuroimaging findings in glutaric aciduria type 1 have been well defined. However, the changes in magnetic resonance spectroscopy, a noninvasive tool for identifying the biochemical state of the brain, are scarce in glutaric aciduria type 1. This report presents the magnetic resonance spectroscopy findings in a 19-month-old male with glutaric aciduria type 1. Magnetic resonance spectroscopy of right frontal white matter and right lentiform nuclei revealed decreased N-acetylaspartate/creatine ratio, slightly increased choline/creatine ratio, and increased myoinositol/creatine ratio, compared with the age-matched control patients. We thought that these changes were in accordance with neuroaxonal damage, demyelination, and astrocytosis in these areas. In conclusion, proton magnetic resonance spectroscopy provides a tool for assessing metabolic disturbances and the extent of brain damage noninvasively in glutaric aciduria type 1.
- Subjects :
- Brain Diseases, Metabolic, Inborn genetics
Glutaryl-CoA Dehydrogenase
Humans
Infant
Male
Oxidoreductases Acting on CH-CH Group Donors genetics
Protons
Brain Diseases, Metabolic, Inborn diagnosis
Brain Diseases, Metabolic, Inborn metabolism
Glutarates metabolism
Magnetic Resonance Spectroscopy methods
Oxidoreductases Acting on CH-CH Group Donors deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 0887-8994
- Volume :
- 31
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Pediatric neurology
- Publication Type :
- Academic Journal
- Accession number :
- 15351027
- Full Text :
- https://doi.org/10.1016/j.pediatrneurol.2004.02.009